chr13:113773159:G>A Detail (hg19) (F7, F10)

Information

Genome

Assembly Position
hg19 chr13:113,773,159-113,773,159
hg38 chr13:113,118,845-113,118,845 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001267554.1:c.986G>A NP_001254483.1:p.Arg329Gln
NR_051961.1:c.986G>A
NM_019616.3:c.1172G>A NP_062562.1:p.Arg391Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.062
ToMMo:0.067
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.053

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 613878 OMIM
HGNC 3544 HGNC
Ensembl ENSG00000057593 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv49949754 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2000-09-14 no assertion criteria provided Myocardial infarction, decreased susceptibility to germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign 2016-06-14 criteria provided, single submitter factor X deficiency germline Detail
Benign 2016-06-14 criteria provided, single submitter factor VII deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cerebrovascular accident Among whites, six SNPs were associated with stroke, with a nominal P-value of &l... BeFree 21114618 Detail
<0.001 Cerebrovascular accident Among whites, six SNPs were associated with stroke, with a nominal P-value of &l... BeFree 21114618 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) AND Myocardial infarction, decreased susceptibility to ClinVar Detail
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) AND not specified ClinVar Detail
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) AND Factor X deficiency ClinVar Detail
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) AND Factor VII deficiency ClinVar Detail
Among whites, six SNPs were associated with stroke, with a nominal P-value of &lt; 0.01: rs6046 and ... DisGeNET Detail
Among whites, six SNPs were associated with stroke, with a nominal P-value of &lt; 0.01: rs6046 and ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6046 dbSNP
Genome
hg19
Position
chr13:113,773,159-113,773,159
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1198
Mean of sample read depth (HGVD)
67.51
Standard deviation of sample read depth (HGVD)
32.94
Number of reference allele (HGVD)
2247
Number of alternative allele (HGVD)
149
Allele Frequency (HGVD)
0.06218697829716194
Gene Symbol (HGVD)
F7
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6046
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.067
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1123
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
East Asian Chromosome Counts (ExAC)
8468
East Asian Allele Counts (ExAC)
451
East Asian Heterozygous Counts (ExAC)
441
East Asian Homozygous Counts (ExAC)
5
East Asian Allele Frequency (ExAC)
0.053259329239489846
Chromosome Counts in All Race (ExAC)
116754
Allele Counts in All Race (ExAC)
15662
Heterozygous Counts in All Race (ExAC)
13014
Homozygous Counts in All Race (ExAC)
1324
Allele Frequency in All Race (ExAC)
0.13414529694914093
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